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. Author manuscript; available in PMC: 2022 Dec 1.
Published in final edited form as: J Bone Miner Res. 2021 Oct 4;36(12):2317–2328. doi: 10.1002/jbmr.4443

Fig. 1. Conductive hearing loss and severe osteomalacia in patients with XLH.

Fig. 1.

(A) Pure-tone threshold audiometry of a 27-year-old (patient 1) and a 32-year-old (patient 2) woman with XLH. While both sides were equally affected, the representative measurements of the right ears are shown. The sound frequency (in kHz) is shown on the horizontal axis of the audiogram, while the sound intensity (in dB) is recorded on the vertical axis. The thresholds of bone and air conduction are displayed as arrowheads and circles, respectively. Results revealed higher air conduction thresholds indicating conductive hearing loss. (B) Left: CCT images showing representative auditory ossicles of a control and XLH patient. White arrows point to the measured region of interest. Right: Quantification of average hounsfield units (HU) in two XLH patients and controls. (C) Representative qBEI images of a transiliac crest biopsy of the XLH patients and of healthy age-matched controls. Bone mineral density distribution analysis showed reduced CaMean and increased fraction of CaLow in XLH. (D) Representative von Kossa-van Gieson stained histological images, showing increased OV/BV and BV/TV of the XLH patient compared to age-matched controls.